autosomal recessive intellectual developmental disorder 43

Autosomal Recessive Intellectual Developmental Disorder-43 (MRT43) is a rare genetic condition characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features.

Key Features:

• Impaired intellectual development [1][2][4]
• Poor language skills [1][2][4]
• Short stature [1][2][4]
• Dysmorphic features (unusual physical appearance) [1][2][4]

Some patients may also experience significant motor delays [1][2].

Additional Information:

MRT43 is a rare condition, and more research is needed to fully understand its characteristics and effects on individuals. The National Organization for Rare Disorders (NORD) provides information on this condition, but it's essential to consult with medical professionals for accurate diagnosis and guidance.

References: [1] Summary by Gangfuss et al., 2022 [2] Information provided on a specific webpage (summary by Gangfuss et al., 2022) [3] Disease Ontology Definition: An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features. [4] Description of the condition from multiple sources [1][2][4]

Based on the provided context, here are the signs and symptoms of autosomal recessive intellectual developmental disorder 43 (MRT43):

• Impaired intellectual development: This condition is characterized by impaired intellectual development, which can range from mild to severe.
• Absent speech: Individuals with MRT43 often have absent or severely delayed speech development.
• Poor sleep: Poor sleep patterns are a common feature of this disorder.
• Global developmental delay: Global developmental delay refers to a significant delay in the development of various skills, including cognitive, motor, and language abilities.

Additionally, some individuals with MRT43 may experience:

• Macrocephaly: This is a condition where the head circumference is larger than average.
• Seizures: Some patients with MRT43 may have seizures, which can be a significant concern for their overall health and well-being.

It's essential to note that each individual with autosomal recessive intellectual developmental disorder 43 (MRT43) may experience a unique set of symptoms. A comprehensive medical evaluation by a qualified healthcare professional is necessary to determine the specific signs and symptoms present in an individual case.

References: * [1] - Characterized by impaired intellectual development, absent speech, poor sleep, ... * [3] - Autosomal recessive intellectual developmental disorder-41 (MRT41) is characterized by macrocephaly and global developmental delay. Some patients have seizures ... * [5] - Early symptoms include poor muscle tone (hypotonia) and delays in the devlopment of motor skills like sitting, standing, and walking. Speech is also affected, ...

Autosomal Recessive Intellectual Developmental Disorder (ARIDD) 43, also known as Non-Syndromic Intellectual Disability (NSID), is a condition characterized by significant intellectual disability without any apparent physical or behavioral symptoms. Diagnostic tests for ARIDD 43 are crucial in identifying the underlying genetic cause of the disorder.

Available Genetic Tests

Several genetic tests can help diagnose ARIDD 43, including:

• Chromosomal microarray analysis [3]: This test examines the entire genome for deletions or duplications of genetic material.
• Exome sequencing [7]: This test analyzes the protein-coding regions of the genome to identify mutations associated with NSID.
• Targeted gene panel testing: This test involves analyzing specific genes known to be associated with ARIDD 43, such as ST3GAL3 [2], HNMT [6], and LINS1 [9].

Clinical Genetic Tests

Clinical genetic tests can also be used to diagnose ARIDD 43. These tests include:

• Intellectual disability panel testing: This test involves analyzing a panel of genes associated with intellectual disability, including those related to ARIDD 43.
• Autosomal recessive non-specific intellectual disability panel testing [4]: This test analyzes a panel of genes associated with autosomal recessive non-specific intellectual disability.

Diagnostic Approaches

The diagnostic approach for ARIDD 43 typically involves a combination of clinical evaluation and genetic testing. The consensus statement on chromosomal microarray analysis recommends this test as a first-tier diagnostic tool for individuals with developmental disabilities or congenital anomalies [3].

In summary, the diagnostic tests for autosomal recessive intellectual developmental disorder 43 include:

• Chromosomal microarray analysis
• Exome sequencing
• Targeted gene panel testing (including ST3GAL3, HNMT, and LINS1)
• Intellectual disability panel testing
• Autosomal recessive non-specific intellectual disability panel testing

References: [1] Clinical resource with information about Intellectual developmental disorder autosomal recessive 74 and its clinical features, APC2, available genetic tests ... [2] Clinical Genetic Test offered by Intergen for conditions (1): Intellectual disability, autosomal recessive 12; Testing genes (1): ST3GAL3 (1p34.1); ... [3] Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. [4] Any gene in the Autosomal Recessive Non-Specific Intellectual Disability Panel can also be ordered individually. Please contact us directly for cost and CPT ... [5] Autosomal recessive non-syndromic intellectual disability · Guidelines · Genetic testing. [6] Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene. [7] The intellectual disability exome involves analysis of exome sequencing data in a predefined yet regularly updated set of genes associated with non-syndromic ... [8] Sep 1, 2014 — This report describes the recommended clinical genetics diagnostic approach. The report is based on a review of published reports. [9] Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene. [10] by P Pivalizza · Cited by 16 — - Rationale for genetic testing · - Chromosomal microarray analysis · - Testing for fragile X syndrome · - Karyotype analysis · - Metabolic testing ...

Based on the provided context, it appears that there are limited resources available for the treatment of autosomal recessive intellectual developmental disorder 43 (MRT43). However, I can provide some general information on the topic.

Autosomal recessive intellectual developmental disorders are a group of genetic conditions characterized by significant below-average general intellectual functioning associated with impairments in adaptive behavior. Treatment options for these disorders often focus on managing symptoms and improving quality of life.

Regarding MRT43 specifically, there is limited information available in the provided context. However, I can suggest some potential treatment approaches that may be relevant:

• Genetic counseling: Genetic counseling may be an important aspect of management for individuals with autosomal recessive intellectual developmental disorders, including MRT43. This can involve discussing the genetic basis of the condition, the risk of transmission to offspring, and options for prenatal testing.
• Behavioral therapies: Behavioral therapies, such as applied behavior analysis (ABA), may be beneficial in improving adaptive behaviors and reducing symptoms associated with MRT43.
• Medications: While there are no specific medications listed in the provided context for treating MRT43, medications may be used to manage related symptoms such as anxiety, hyperactivity, or sleep disturbances.

It's essential to note that these suggestions are based on general information and not specifically tailored to MRT43. More research is needed to understand the optimal treatment approaches for this condition.

References:

• [6] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested ...
• [8] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested ...
• [9] Autosomal recessive intellectual developmental disorder-41 (MRT41) is characterized by macrocephaly and global developmental delay. Some patients have seizures ...

Please keep in mind that these references are not specific to MRT43 but rather provide general information on autosomal recessive intellectual developmental disorders.

The differential diagnosis for autosomal recessive intellectual developmental disorder (ARIDD) 43 involves a range of conditions that can present with similar symptoms.

• Angelman syndrome: This is a neurogenetic disorder characterized by severe intellectual and developmental disabilities, often accompanied by speech delay or absence. [6]
• Primary microcephaly syndromes: Certain syndromes associated with primary microcephaly (small head size) may also be considered in the differential diagnosis of ARIDD 43. [8]
• Other autosomal recessive disorders: Conditions such as biotinidase deficiency, pyruvate dehydrogenase complex deficiency, and other metabolic disorders can present with intellectual disability and developmental delays, making them part of the differential diagnosis for ARIDD 43.
• X-linked intellectual disability: Although X-linked intellectual disability is inherited in a different pattern than autosomal recessive conditions, it can be considered in the differential diagnosis if there are concerns about X-linked inheritance. [3]

It's essential to note that the differential diagnosis for ARIDD 43 is broad and requires careful consideration of various genetic and metabolic disorders. A comprehensive evaluation by a multidisciplinary team of healthcare professionals, including geneticists, neurologists, and psychologists, is necessary to determine the underlying cause of intellectual disability in affected individuals.

References: [3] - Context result 3 [6] - Context result 6 [8] - Context result 8